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A Raas-Rothschild

Showing results (21-30 of 36) with videos related to

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Clinical Genetics|January 1, 1990
Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndromeB Wolach, A Raas-Rothschild, A Metzker, et al.
Clinical Genetics|September 13, 2006
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentationsA Ghalamkarpour, S Morlot, A Raas-Rothschild, et al.
The Journal of Pediatrics|September 1, 1993
Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variantO P Hamiel, A Raas-Rothschild, M Upadhyaya, et al.
Journal of Inherited Metabolic Disease|August 19, 2006
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skippingG Maydan, B S Andresen, P P Madsen, et al.
Nature Genetics|September 6, 2000
Identification of the gene causing mucolipidosis type IVR Bargal, N Avidan, E Ben-Asher, et al.
American Journal of Human Genetics|October 18, 2000
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15L Morlé, M Bozon, J C Zech, et al.
Human Mutation|April 24, 2001
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish populationR Bargal, N Avidan, T Olender, et al.
Clinical Genetics|September 29, 2009
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression burstsF Molinari, A Kaminska, G Fiermonte, et al.
Journal of Medical Genetics|October 1, 1988
Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndromeA Raas-Rothschild, R M Goodman, S Meyer, et al.
The Journal of Clinical Investigation|March 11, 2000
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)A Raas-Rothschild, V Cormier-Daire, M Bao, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
Clinical Genetics|January 1, 1990
Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndromeB Wolach, A Raas-Rothschild, A Metzker, et al.
Clinical Genetics|September 13, 2006
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentationsA Ghalamkarpour, S Morlot, A Raas-Rothschild, et al.
The Journal of Pediatrics|September 1, 1993
Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variantO P Hamiel, A Raas-Rothschild, M Upadhyaya, et al.
Journal of Inherited Metabolic Disease|August 19, 2006
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skippingG Maydan, B S Andresen, P P Madsen, et al.
Nature Genetics|September 6, 2000
Identification of the gene causing mucolipidosis type IVR Bargal, N Avidan, E Ben-Asher, et al.
American Journal of Human Genetics|October 18, 2000
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15L Morlé, M Bozon, J C Zech, et al.
Human Mutation|April 24, 2001
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish populationR Bargal, N Avidan, T Olender, et al.
Clinical Genetics|September 29, 2009
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression burstsF Molinari, A Kaminska, G Fiermonte, et al.
Journal of Medical Genetics|October 1, 1988
Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndromeA Raas-Rothschild, R M Goodman, S Meyer, et al.
The Journal of Clinical Investigation|March 11, 2000
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)A Raas-Rothschild, V Cormier-Daire, M Bao, et al.
Pageof 4